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Entry
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- *613583 - WD REPEAT-CONTAINING PROTEIN 62; WDR62
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- OMIM
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<p>
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<span class="h4">*613583</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613583">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000075702;t=ENST00000401500" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=284403" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613583" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000075702;t=ENST00000401500" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001083961,NM_001411145,NM_001411146,NM_001411147,NM_173636,XM_005258809,XM_011526840,XM_011526841,XM_011526842,XM_011526843,XM_011526844,XM_017026665,XM_047438657,XM_047438658,XM_047438659,XM_047438660,XM_047438661,XM_047438662,XM_047438663,XM_047438664,XM_047438665,XM_047438666,XR_001753671,XR_001753672" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001083961" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=613583" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=10721&isoform_id=10721_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/WDR62" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/2887497,5911879,16878106,21748812,52545578,52545933,124504627,145580608,145580610,308153671,530416321,768008511,768008515,768008519,768008523,768008527,954182144,957951913,957951916,957951919,1034607478,2217320719,2217320722,2217320724,2217320726,2217320729,2217320732,2217320734,2217320736,2217320738,2217320741,2288627475,2288627552,2288725519,2462564669,2462564671,2462564673,2462564675,2462564677,2462564679,2462564681,2462564683,2462564685,2462564687,2462564689,2462564691,2462564693,2462564695,2462564697,2462564699,2462564701,2462564703" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/O43379" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=284403" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000075702;t=ENST00000401500" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR62" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=WDR62" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+284403" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/WDR62" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:284403" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/284403" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr19&hgg_gene=ENST00000401500.7&hgg_start=36054897&hgg_end=36111145&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24502" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:24502" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613583[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613583[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/WDR62/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000075702" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=WDR62" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=WDR62" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=WDR62" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=WDR62&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA134963627" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:24502" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0031374.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1923696" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/WDR62#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1923696" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/284403/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=284403" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019237;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060503-291" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=WDR62&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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613583
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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WD REPEAT-CONTAINING PROTEIN 62; WDR62
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CHROMOSOME 19 OPEN READING FRAME 14; C19ORF14
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=WDR62" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">WDR62</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/19/614?start=-3&limit=10&highlight=614">19q13.12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:36054897-36111145&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">19:36,054,897-36,111,145</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
<a href="/geneMap/19/614?start=-3&limit=10&highlight=614">
|
|
19q13.12
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/604317"> 604317 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/613583" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613583" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The WDR62 gene encodes a protein that localizes to the centrosome and to the nucleus, depending on the cell phase and on the cell type (summary by <a href="#1" class="mim-tip-reference" title="Bhat, V., Girimaji, S., Mohan, G., Arvinda, H., Singhmar, P., Duvvari, M., Kumar, A. <strong>Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.</strong> Clin. Genet. 80: 532-540, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21496009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21496009</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01686.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21496009">Bhat et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21496009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> identified the WDR62 gene in mutation analysis of a patient with microcephaly and cortical abnormalities. The WDR62 gene encodes a 1,523-amino acid protein. Immunohistochemical staining of human fetal brain at 20 weeks' gestation demonstrated enriched WDR62 expression within the ventricular and subventricular zones. Stainings suggested predominantly nuclear localization, which was confirmed by immunofluorescence microscopy and Western blot analysis. WDR62 is expressed by neural stem cells and intermediate progenitors, marked by SOX2 (<a href="/entry/184429">184429</a>) and TBR2 (<a href="/entry/604615">604615</a>) expression. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other microcephaly genes, WDR62 apparently does not associate with centrosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al. (2010)</a> noted that WDR62 contains at least 15 WD repeats. In HeLa, HEK293, and B lymphoblastoid cells, they found that WDR62 had weak, diffuse cytoplasmic expression and was not found in the nucleus during interphase. However, during mitosis, WDR62 accumulated strongly at the spindle poles, although it was not present at the midbody in cytokinesis. The expression pattern of WDR62 was identical to that of ASPM (<a href="/entry/605481">605481</a>), which is mutant in primary microcephaly-5 (MCPH5; <a href="/entry/608716">608716</a>). Immunohistochemistry and confocal microscopy of mouse embryonic brain showed Wdr62 expression exclusively in apical precursors undergoing mitosis at the apical-ventricular surface in the neuroepithelium of the future cerebral cortex. Wdr62 expression was also found exclusively in intermediate neural precursors found in the subventricular zone during mitosis. Similar localization to mitotic neural precursor cells was observed in human embryonic brain tissue. WDR62 expression was also found in newborn neurons and in the outermost layer of neurons that had just migrated to the cortical plate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A. <strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong> Nature Genet. 42: 1015-1020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890278">Yu et al. (2010)</a> found widespread expression of Wdr62 in the developing mouse brain, with highest expression in the forebrain. Expression was seen in the ventricular zone and cortical plate, consistent with roles in progenitor cells and postmitotic neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunohistochemical analysis, <a href="#9" class="mim-tip-reference" title="Zhou, Y., Qin, Y., Qin, Y., Xu, B., Guo, T., Ke, H., Chen, M., Zhang, L., Han, F., Li, Y., Chen, M., Behrens, A., Wang, Y., Xu, Z., Chen, Z.-J., Gao, F. <strong>Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated POI in humans.</strong> PLoS Genet. 14: e1007463, 2018. Note: Electronic Article. Erratum: PLoS Genet. 15: e1008504, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30102701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30102701</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30102701[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.1007463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30102701">Zhou et al. (2018)</a> showed that Wdr62 protein was abundantly expressed in germ cells of mouse ovary and testis during the embryonic stage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30102701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> determined that the WDR62 gene contains 32 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>There are alternative WDR62 transcripts in humans: exon 27 contains an in-frame intraexonic alternative splice acceptor site, resulting in the exclusion of the first 12 nucleotides (<a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The WDR62 gene maps to chromosome 19q13.12 (<a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A. <strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong> Nature Genet. 42: 1015-1020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890278">Yu et al. (2010)</a> found notable cell-cycle dependent cellular localization of WDR62 in HeLa and HEK cells. During interphase, there was punctate, perinuclear expression, suggesting localization to the Golgi apparatus, whereas during M phase, WDR62 was found at the spindle poles. The subcellular localization resembled that of CEP170 (<a href="/entry/613023">613023</a>). The findings suggested a major centrosomal role for WDR62. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In cellular studies, <a href="#1" class="mim-tip-reference" title="Bhat, V., Girimaji, S., Mohan, G., Arvinda, H., Singhmar, P., Duvvari, M., Kumar, A. <strong>Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.</strong> Clin. Genet. 80: 532-540, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21496009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21496009</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01686.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21496009">Bhat et al. (2011)</a> found that WDR62 localized to centrosomes throughout mitotic progression. No staining was observed at the midbody during cytokinesis. During interphase, WDR62 localized to nucleoli. The findings indicated that WDR62 is a centrosomal as well as a nuclear protein and that localization is dependent both on the cell phase and on the cell type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21496009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> identified 2 missense, 2 nonsense, and 2 frameshift mutations (<a href="#0001">613583.0001</a>-<a href="#0005">613583.0005</a>) in the WDR62 gene in 10 patients with microcephaly-2 with cortical malformations (MCPH2; <a href="/entry/604317">604317</a>). All patients were from consanguineous Turkish families and manifested with microcephaly, moderate to severe mental retardation, and cortical malformation including pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly, and in 1 instance, cerebellar hypoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 consanguineous Pakistani families with primary microcephaly showing linkage to chromosome 19q13 (MCPH2) (<a href="#5" class="mim-tip-reference" title="Roberts, E., Jackson, A. P., Carradice, A. C., Deeble, V. J., Mannan, J., Rashid, Y., Jafri, H., McHale, D. P., Markham, A. F., Lench, N. J., Woods, C. G. <strong>The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.</strong> Europ. J. Hum. Genet. 7: 815-820, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573015</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573015">Roberts et al., 1999</a>), <a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al. (2010)</a> identified 2 different homozygous mutations in the WDR62 gene (<a href="#0006">613583.0006</a> and <a href="#0007">613583.0007</a>, respectively). In 5 additional consanguineous families of Pakistani, Arab, and Caucasian ancestry with primary microcephaly, they identified 4 different homozygous WDR62 mutations (see, e.g., <a href="#0008">613583.0008</a>-<a href="#0009">613583.0009</a>, <a href="#0011">613583.0011</a>). Overall, the findings indicated that WDR62 is a key protein in enabling spindle poles to position the cytokinetic furrow and prolong neural precursor generation, a process that is uniquely vital to the proper growth of the human cerebral cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10573015+20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A. <strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong> Nature Genet. 42: 1015-1020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890278">Yu et al. (2010)</a> identified 6 different homozygous mutations in the WDR62 gene (see, e.g., <a href="#0009">613583.0009</a>-<a href="#0011">613583.0011</a>) in affected members of 6 consanguineous families with microcephaly-2 with cortical malformations, including polymicrogyria, schizencephaly, and subcortical heterotopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bhat, V., Girimaji, S., Mohan, G., Arvinda, H., Singhmar, P., Duvvari, M., Kumar, A. <strong>Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.</strong> Clin. Genet. 80: 532-540, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21496009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21496009</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01686.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21496009">Bhat et al. (2011)</a> identified 2 different homozygous truncating WDR62 mutations in 2 unrelated consanguineous Indian families with MCPH2 with cortical malformations, bringing the total number of pathogenic mutations in the gene to 17. Six of the 17 mutations are missense, and mutations occur throughout the gene sequence. <a href="#1" class="mim-tip-reference" title="Bhat, V., Girimaji, S., Mohan, G., Arvinda, H., Singhmar, P., Duvvari, M., Kumar, A. <strong>Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.</strong> Clin. Genet. 80: 532-540, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21496009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21496009</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01686.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21496009">Bhat et al. (2011)</a> emphasized the wide phenotypic spectrum of cortical malformations in mutation carriers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21496009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Sgourdou, P., Mishra-Gorur, K., Saotome, I., Henagariu, O., Tuysuz, B., Campos, C., Ishigame, K., Giannikou, K., Quon, J. L., Sestan, N., Caglayan, A. O., Gunel, M., Louvi, A. <strong>Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.</strong> Sci. Rep. 7: 43708, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28272472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28272472</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28272472[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/srep43708" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28272472">Sgourdou et al. (2017)</a> found that mice homozygous for a C-terminal truncating mutation in Wdr62 were viable but infertile. Compared with wildtype mice, mutant mice had smaller body size at early postnatal stages, but not in adulthood. Mutant mouse brain was smaller than normal from birth onward, likely due to reduced brain cell number. Cortical radial thickness was reduced in mutant mouse brain, and neocortical cytoarchitecture was disrupted, with dense and compact upper cortical layers, especially at rostral levels. Examination of microcephaly in mutant mice revealed that Wdr62 was required for proliferation of late-born cortical progenitors and differentially impacted self-renewal and differentiation of early versus late neocortical progenitors. Mutant mice exhibited asymmetric centrosome inheritance in neocortex, leading to abnormal migration and differentiation of mutant neurons inheriting the new mother centriole. Loss of Wdr62 in neural progenitors affected differentiation of a subset of cortical neurons. Wdr62 disruption was associated with defects in spindle pole localization of Wdr62 and abnormalities in mitotic cell cycle progression in neocortical progenitors from mutant mice and in primary fibroblasts from humans with autosomal recessive primary microcephaly and a similar C-terminal truncating mutation in WDR62. Database analysis and other investigation showed that wildtype WDR62, but not mutant WDR62, interacted with the core chromosome passenger complex (CPC) enzyme AURKB (<a href="/entry/604970">604970</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28272472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Zhou, Y., Qin, Y., Qin, Y., Xu, B., Guo, T., Ke, H., Chen, M., Zhang, L., Han, F., Li, Y., Chen, M., Behrens, A., Wang, Y., Xu, Z., Chen, Z.-J., Gao, F. <strong>Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated POI in humans.</strong> PLoS Genet. 14: e1007463, 2018. Note: Electronic Article. Erratum: PLoS Genet. 15: e1008504, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30102701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30102701</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30102701[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1371/journal.pgen.1007463" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30102701">Zhou et al. (2018)</a> found that Wdr62 -/- mice were born at a normal mendelian ratio without developmental defects. However, Wdr62 -/- mice were completely infertile with reduced ovary and testis size and absent ovarian follicles in females. Immunofluorescence and real-time PCR analyses showed a defect in meiotic initiation in Wdr62 -/- female germ cells, causing them to remain in an undifferentiated state and undergo apoptosis. Expression of meiotic genes was dramatically reduced in germ cells from Wdr62 -/- female mice. Further analysis showed that Wdr62 was required for retinoic acid-induced meiotic gene expression by activating Jnk1 (MAPK8; <a href="/entry/601158">601158</a>) signaling, and Jnk1 overexpression partially rescued defective germ cell development in Wdr62 -/- female mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30102701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Shohayeb, B., Ho, U., Yeap, Y. Y., Parton, R. G., Millard, S. S., Xu, Z., Piper, M., Ng, D. C. H. <strong>The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.</strong> Hum. Molec. Genet. 29: 248-263, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31816041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31816041</a>] [<a href="https://doi.org/10.1093/hmg/ddz281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31816041">Shohayeb et al. (2020)</a> generated knockin mice homozygous for a val66-to-met (V66M) or arg439-to-his (R439H) mutation in Wdr62, corresponding to the human V65M (<a href="#0011">613583.0011</a>) and R438H mutations (<a href="#0006">613583.0006</a>) associated with microcephaly, as well as mice homozygous for a Wdr62 null allele (Wdr62-null mice). Expression of Wdr62 was maintained in R439H mice at both transcript and protein levels, was reduced only at the protein level in V66M mice, and was substantially reduced at both transcript and protein levels in Wdr62-null mice. Postnatal mice homozygous for R439H were rarely seen due to embryonic lethality during late gestation or lethality at birth, whereas mice homozygous for V66M or Wdr62 deletion were born at only marginally lower than expected mendelian ratios. However, each Wdr62 mutation resulted in gross morphologic defects consistent with ciliopathies (dwarfism, anophthalmia, and microcephaly). The Wdr62 mutations triggered premature differentiation and loss of self-renewed radial glia in mutant mice, as they perturbed division orientation of apical progenitors and increased cell cycle exit. Wdr62 played a conserved role in cilia regulation in developing cortex, and Wdr62 mutations caused axonemal and basal body defects, thereby disrupting normal cilia regulation in developing cortex. Wdr62 localized to the basal body of ciliated wildtype mouse embryonic fibroblasts (MEFs). Wdr62 mutants also localized to the basal body, but they lost their ability to interact with Cpap (CENPJ; <a href="/entry/609279">609279</a>) and failed to recruit Cpap to centrosomes, leading to deficient recruitment of Ift88 (<a href="/entry/600595">600595</a>), a protein required for cilia formation, to basal bodies and ciliary axonemes. This loss of function in Wdr62 mutant mice caused premature differentiation of radial glia and cilia defects that contributed to development of microcephaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31816041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0001 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
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<p>In 2 sibs with autosomal recessive microcephaly-2 and cortical malformations (MCPH2; <a href="/entry/604317">604317</a>) and in an affected child from another family, all from consanguineous Turkish unions, <a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> identified homozygosity for a 4-basepair deletion (TGCC) in exon 31 of the WDR62 gene. This deletion occurred at codon 1402 and resulted in a frameshift and premature termination (Val1402GlyfsTer12). The mutation was heterozygous in all parents. It was not observed in 1,290 Turkish control chromosomes. The index patient was a 4-year, 6-month-old female who initially presented at 4 months of age with small head size. At 2 years, 3 months she showed micrognathia and a bulbous nose, and suffered from severe mental retardation. She had had no seizures. MRI showed diffuse cortical thickening and pachygyria. The patient from the second family was a 2-year, 4 month-old male. He had microcephaly and developmental delay but no seizures. Coronal images of this patient showed findings of microlissencephaly including prominent microcephaly, bilateral Sylvian clefts, hypoplastic corpus callosum, and thickened cortex. The kinship coefficients between affected individuals from both families were consistent with fourth-degree relatedness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs147875659 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs147875659;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs147875659?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs147875659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs147875659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 15-year, 5-month old female with microcephaly-2 and cortical malformations (MCPH2; <a href="/entry/604317">604317</a>), the child of consanguineous Turkish parents, <a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> identified homozygosity for a G-to-A substitution in exon 12 of the WDR62 gene, resulting in a glutamic acid-to-lysine substitution at codon 526 (E526K). The glutamic acid at codon 526 was invariant in all species examined from human to zebrafish and lamprey. This mutation was found in heterozygosity in 3 apparently unrelated neurologically normal Turkish individuals, giving an allele frequency of 0.2%. The patient presented to medical attention at age 3.5 years with poor verbal skills. She had microcephaly, severe mental retardation, prognathism, dysconjugate gaze, and dysarthria, and was able to ambulate independently. Although abnormal electroencephalograms were noted, the patient never suffered an overt seizure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
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WDR62, TRP224SER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607176 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607176;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607176" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000059" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000059" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000059</a>
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<p>In 2 sibs and their cousin with microcephaly-2 and cortical malformations (MCPH2; <a href="/entry/604317">604317</a>), <a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> identified homozygosity for a missense mutation in the WDR62 gene, a G-to-C transversion in exon 6 that converted tryptophan to serine at codon 224 (W224S). All parents were heterozygous for the mutation, which was not identified in 1,290 Turkish and 1,500 Caucasian control chromosomes. Tryptophan-224 was invariant in all species examined from human to zebrafish and lamprey. The proband was a 6-year, 5-month-old boy who presented at 2 years of age with hyperactivity, seizures, and inability to sleep. He experienced 4 to 8 seizures per day and had microcephaly, micrognathia, and severe mental retardation, and could ambulate only with assistance. The sibs were cousins of the proband. One was an 8-year, 7-month-old female who presented at age 3 with seizures. She was microcephalic, hyperactive, and had dysconjugate gaze. She was able to walk independently and had no obvious dysmorphic features but had moderate mental retardation. Her brother was 12 years, 11 months old. He had seizures, self-mutilating behavior, and severe mental retardation, but could ambulate independently. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
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WDR62, GLN470TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607177 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607177;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607177" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000060" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000060" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000060</a>
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<p>In a 14-year, 6-month-old male with microcephaly-2 and cortical malformations (MCPH2; <a href="/entry/604317">604317</a>), the product of a consanguineous Turkish union, <a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> identified homozygosity for a C-to-T transition in exon 11 of the WDR62 gene, resulting in a glutamine-to-termination substitution at codon 470 (Q470X). This mutation was not identified in 1,290 Turkish and 1,500 Caucasian control chromosomes. The patient was severely mentally retarded but had never had seizures. He had required surgery for hernia repair and cryptorchidism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397704725 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397704725;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397704725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397704725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000061" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000061" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000061</a>
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<p>In a 10-year, 10-month-old female with microcephaly-2 and cortical malformations (MCPH2; <a href="/entry/604317">604317</a>), the product of a consanguineous Turkish union, <a href="#2" class="mim-tip-reference" title="Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others. <strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong> Nature 467: 207-210, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20729831">Bilguvar et al. (2010)</a> identified homozygosity for a 17-bp deletion in exon 30 of the WDR62 gene, leading to a frameshift at codon 1280 and premature termination following a novel peptide of 20 amino acids (Gly1280AlafsTer21). The patient presented to medical attention at 3 months of age with failure to thrive and small head size. On neurologic examination she was noted to have good head control. She recognized her mother and had a social smile. This mutation was not identified in 1,290 Turkish and 1,500 Caucasian control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0006 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907082 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907082;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000024029 OR RCV001384574" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000024029, RCV001384574" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000024029...</a>
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<p>In affected members of a consanguineous Pakistani family with primary microcephaly-2 (MCPH2; <a href="/entry/604317">604317</a>), originally reported by <a href="#5" class="mim-tip-reference" title="Roberts, E., Jackson, A. P., Carradice, A. C., Deeble, V. J., Mannan, J., Rashid, Y., Jafri, H., McHale, D. P., Markham, A. F., Lench, N. J., Woods, C. G. <strong>The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.</strong> Europ. J. Hum. Genet. 7: 815-820, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573015</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573015">Roberts et al. (1999)</a>, <a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al. (2010)</a> identified a homozygous 1313G-A transition in exon 10 of the WDR62 gene, resulting in an arg438-to-his (R438H) substitution at a highly conserved residue. In vitro functional expression assays showed that the mutant protein did not localize correctly to the spindle poles during mitosis. The mutation was not found in 298 Pakistani control chromosomes. Brain scan from 1 patient showed a simplified gyral pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10573015+20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776899 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776899;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous Pakistani family with primary microcephaly-2 (MCPH2; <a href="/entry/604317">604317</a>), originally reported by <a href="#5" class="mim-tip-reference" title="Roberts, E., Jackson, A. P., Carradice, A. C., Deeble, V. J., Mannan, J., Rashid, Y., Jafri, H., McHale, D. P., Markham, A. F., Lench, N. J., Woods, C. G. <strong>The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.</strong> Europ. J. Hum. Genet. 7: 815-820, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573015</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10573015">Roberts et al. (1999)</a>, <a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al. (2010)</a> identified a homozygous 1-bp duplication (4241dupT) in exon 31 of the WDR62 gene, resulting in a frameshift and premature termination. The mutation was predicted to result in a stable transcript with C-terminal deletion of 109 amino acids in a region that contains neither predicted protein domains nor posttranslational modification sites. The mutation was not found in 298 Pakistani control chromosomes. In vitro functional expression assays showed that the mutant protein did not localize correctly to the spindle poles during mitosis. Brain scans of patients were not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10573015+20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907083 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907083;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907083?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected individuals from 2 unrelated Pakistani families with primary microcephaly-2 (MCPH2; <a href="/entry/604317">604317</a>), <a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al. (2010)</a> identified a homozygous 1531G-A transition in exon 11 of the WDR62 gene, resulting in an asp511-to-asn (D511N) substitution at a highly conserved residue. The mutation was found in 1 of 284 Pakistani control chromosomes. Brain scans of the affected individuals were not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776900 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776900;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Turkish boy, born of consanguineous parents, with microcephaly-2 with cortical malformations (MCPH2; <a href="/entry/604317">604317</a>), <a href="#8" class="mim-tip-reference" title="Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A. <strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong> Nature Genet. 42: 1015-1020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890278">Yu et al. (2010)</a> identified a homozygous 1-bp insertion (3936insC) in exon 30 of the WDR62 gene, resulting in a frameshift and premature termination. The mutation was not identified in 508 control individuals. The boy had severely delayed psychomotor development, and brain MRI showed polymicrogyria, simplified gyral pattern, volume loss, and a corpus callosum with incomplete genu and small splenium. A second pregnancy was terminated after the ultrasound showed microcephaly and abnormal gyral pattern in the fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Caucasian girl, born of consanguineous parents, with microcephaly, thickened cerebral cortex, and severe developmental delay, <a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al. (2010)</a> identified homozygosity for the 3936insC mutation, which they termed 3936dupC. The mutation was not identified in 396 Caucasian control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587776901 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776901;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587776901?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected Mexican sibs, born of consanguineous parents, with microcephaly-2 with cortical malformations (MCPH2; <a href="/entry/604317">604317</a>), <a href="#8" class="mim-tip-reference" title="Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A. <strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong> Nature Genet. 42: 1015-1020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890278">Yu et al. (2010)</a> identified a homozygous 1-bp deletion (363delT) in exon 4 of the WDR62 gene, resulting in a frameshift and premature termination. The mutation was not identified in 508 control individuals. There was some phenotypic variability: 2 sibs had small heads with a simplified gyral pattern on brain MRI, 1 of whom had also had generalized tonic-clonic seizures and severe psychomotor retardation. The third sib did not have seizures but had more severe microcephaly (-5.4 SD), normal early psychomotor development with later delay, and more complex MRI changes, including a simplified gyral pattern, thin corpus callosum, and subcortical band heterotopia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907084;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected Saudi Arabian sibs, born of consanguineous parents, with microcephaly-2 with cortical malformations (MCPH2; <a href="/entry/604317">604317</a>), <a href="#8" class="mim-tip-reference" title="Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A. <strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong> Nature Genet. 42: 1015-1020, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890278">Yu et al. (2010)</a> identified homozygosity for a 193G-A transition in exon 2 of the WDR62 gene, resulting in a val65-to-met (V65M) substitution at a highly conserved residue. The mutation was not identified in 508 control individuals. Two sibs were more severely affected, with severe microcephaly (-9.2 to -9.8 SD), profound psychomotor delay with spastic quadriparesis, and polymicrogyria and open lip schizencephaly on brain MRI. The third patient had microcephaly (-5.3 SD), developmental delay, and simplified gyral pattern on brain MRI. All had relative preservation of the cerebellum and brainstem. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 Arab sibs, born of consanguineous parents, with MCPH2, <a href="#4" class="mim-tip-reference" title="Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G. <strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong> Nature Genet. 42: 1010-1014, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.682" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20890279">Nicholas et al. (2010)</a> identified homozygosity for the V65M mutation. The mutation was not identified in 184 Arab control chromosomes. Brain scans of these patients were not available. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs863223322 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs863223322;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs863223322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs863223322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 brothers with primary microcephaly-2 with polymicrogyria (MCPH2; <a href="/entry/604317">604317</a>), who were born of unrelated parents of northern European descent, <a href="#3" class="mim-tip-reference" title="Murdock, D. R., Clark, G. D., Bainbridge, M. N., Newsham, I., Wu, Y.-Q., Muzny, D. M., Cheung, S. W., Gibbs, R. A., Ramocki, M. B. <strong>Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.</strong> Am. J. Med. Genet. 155A: 2071-2077, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21834044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21834044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21834044[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.34165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21834044">Murdock et al. (2011)</a> identified compound heterozygosity for 2 truncating mutations in the WDR62 gene: a 1-bp deletion (2083delA) in exon 17 and a 2-bp deletion (2472_2473delAG; <a href="#0013">613583.0013</a>) in exon 23. Both mutations were predicted to cause nonsense-mediated mRNA decay and loss of function. Each unaffected parent was heterozygous for 1 of the mutations. The mutations were identified by exome sequencing. The phenotype of the sibs varied. The first sib, whose pregnancy was complicated by gestational diabetes, had a more severe phenotype, with extensive bilateral polymicrogyria, abnormal corpus callosum, global developmental delay, intractable seizures, and spastic quadriparesis. The second sib had extensive polymicrogyria and gray matter heterotopia, but did not have seizures; he had age-appropriate cognition and only mild unilateral hemiparesis. Both patients had head circumferences less than the fifth percentile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21834044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs764201220 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs764201220;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs764201220?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs764201220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs764201220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 2-bp deletion in the WDR62 gene (2472_2473delAG) that was found in compound heterozygous state in 2 brothers with primary microcephaly-2 with polymicrogyria (MCPH2; <a href="/entry/604317">604317</a>) by <a href="#3" class="mim-tip-reference" title="Murdock, D. R., Clark, G. D., Bainbridge, M. N., Newsham, I., Wu, Y.-Q., Muzny, D. M., Cheung, S. W., Gibbs, R. A., Ramocki, M. B. <strong>Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.</strong> Am. J. Med. Genet. 155A: 2071-2077, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21834044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21834044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21834044[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.34165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21834044">Murdock et al. (2011)</a>, see <a href="#0012">613583.0012</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21834044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.</strong>
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Clin. Genet. 80: 532-540, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21496009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21496009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21496009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01686.x" target="_blank">Full Text</a>]
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Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others.
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<strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong>
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Nature 467: 207-210, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20729831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20729831</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20729831[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20729831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature09327" target="_blank">Full Text</a>]
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<strong>Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.</strong>
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Am. J. Med. Genet. 155A: 2071-2077, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21834044/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21834044</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21834044[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21834044" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.34165" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Nicholas2010" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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|
Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G.
|
|
<strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong>
|
|
Nature Genet. 42: 1010-1014, 2010.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890279</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890279[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.682" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Roberts1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Roberts, E., Jackson, A. P., Carradice, A. C., Deeble, V. J., Mannan, J., Rashid, Y., Jafri, H., McHale, D. P., Markham, A. F., Lench, N. J., Woods, C. G.
|
|
<strong>The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.</strong>
|
|
Europ. J. Hum. Genet. 7: 815-820, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10573015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10573015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10573015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5200385" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Sgourdou2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sgourdou, P., Mishra-Gorur, K., Saotome, I., Henagariu, O., Tuysuz, B., Campos, C., Ishigame, K., Giannikou, K., Quon, J. L., Sestan, N., Caglayan, A. O., Gunel, M., Louvi, A.
|
|
<strong>Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.</strong>
|
|
Sci. Rep. 7: 43708, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28272472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28272472</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28272472[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28272472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/srep43708" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Shohayeb2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shohayeb, B., Ho, U., Yeap, Y. Y., Parton, R. G., Millard, S. S., Xu, Z., Piper, M., Ng, D. C. H.
|
|
<strong>The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.</strong>
|
|
Hum. Molec. Genet. 29: 248-263, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31816041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31816041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31816041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddz281" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Yu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A.
|
|
<strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong>
|
|
Nature Genet. 42: 1015-1020, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20890278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20890278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20890278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20890278" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.683" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Zhou2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhou, Y., Qin, Y., Qin, Y., Xu, B., Guo, T., Ke, H., Chen, M., Zhang, L., Han, F., Li, Y., Chen, M., Behrens, A., Wang, Y., Xu, Z., Chen, Z.-J., Gao, F.
|
|
<strong>Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated POI in humans.</strong>
|
|
PLoS Genet. 14: e1007463, 2018. Note: Electronic Article. Erratum: PLoS Genet. 15: e1008504, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30102701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30102701</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30102701[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30102701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1371/journal.pgen.1007463" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 02/02/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 03/05/2019<br>Cassandra L. Kniffin - updated : 9/6/2011<br>Cassandra L. Kniffin - updated : 5/12/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 10/7/2010
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 02/02/2022
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
mgross : 09/21/2020<br>mgross : 09/21/2020<br>carol : 03/18/2020<br>carol : 03/18/2019<br>mgross : 03/05/2019<br>mgross : 03/05/2019<br>carol : 09/15/2015<br>mcolton : 8/17/2015<br>carol : 2/13/2015<br>carol : 8/30/2013<br>alopez : 11/2/2011<br>alopez : 10/4/2011<br>carol : 9/7/2011<br>ckniffin : 9/6/2011<br>carol : 7/6/2011<br>wwang : 6/8/2011<br>ckniffin : 6/7/2011<br>ckniffin : 6/7/2011<br>wwang : 6/7/2011<br>ckniffin : 5/12/2011<br>alopez : 10/7/2010
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 613583
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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WD REPEAT-CONTAINING PROTEIN 62; WDR62
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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|
CHROMOSOME 19 OPEN READING FRAME 14; C19ORF14
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: WDR62</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 19q13.12
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:36,054,897-36,111,145 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
19q13.12
|
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</span>
|
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</td>
|
|
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
604317
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</h4>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The WDR62 gene encodes a protein that localizes to the centrosome and to the nucleus, depending on the cell phase and on the cell type (summary by Bhat et al., 2011). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Bilguvar et al. (2010) identified the WDR62 gene in mutation analysis of a patient with microcephaly and cortical abnormalities. The WDR62 gene encodes a 1,523-amino acid protein. Immunohistochemical staining of human fetal brain at 20 weeks' gestation demonstrated enriched WDR62 expression within the ventricular and subventricular zones. Stainings suggested predominantly nuclear localization, which was confirmed by immunofluorescence microscopy and Western blot analysis. WDR62 is expressed by neural stem cells and intermediate progenitors, marked by SOX2 (184429) and TBR2 (604615) expression. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other microcephaly genes, WDR62 apparently does not associate with centrosomes. </p><p>Nicholas et al. (2010) noted that WDR62 contains at least 15 WD repeats. In HeLa, HEK293, and B lymphoblastoid cells, they found that WDR62 had weak, diffuse cytoplasmic expression and was not found in the nucleus during interphase. However, during mitosis, WDR62 accumulated strongly at the spindle poles, although it was not present at the midbody in cytokinesis. The expression pattern of WDR62 was identical to that of ASPM (605481), which is mutant in primary microcephaly-5 (MCPH5; 608716). Immunohistochemistry and confocal microscopy of mouse embryonic brain showed Wdr62 expression exclusively in apical precursors undergoing mitosis at the apical-ventricular surface in the neuroepithelium of the future cerebral cortex. Wdr62 expression was also found exclusively in intermediate neural precursors found in the subventricular zone during mitosis. Similar localization to mitotic neural precursor cells was observed in human embryonic brain tissue. WDR62 expression was also found in newborn neurons and in the outermost layer of neurons that had just migrated to the cortical plate. </p><p>Yu et al. (2010) found widespread expression of Wdr62 in the developing mouse brain, with highest expression in the forebrain. Expression was seen in the ventricular zone and cortical plate, consistent with roles in progenitor cells and postmitotic neurons. </p><p>By immunohistochemical analysis, Zhou et al. (2018) showed that Wdr62 protein was abundantly expressed in germ cells of mouse ovary and testis during the embryonic stage. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bilguvar et al. (2010) determined that the WDR62 gene contains 32 exons. </p><p>There are alternative WDR62 transcripts in humans: exon 27 contains an in-frame intraexonic alternative splice acceptor site, resulting in the exclusion of the first 12 nucleotides (Nicholas et al., 2010). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The WDR62 gene maps to chromosome 19q13.12 (Bilguvar et al., 2010). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Yu et al. (2010) found notable cell-cycle dependent cellular localization of WDR62 in HeLa and HEK cells. During interphase, there was punctate, perinuclear expression, suggesting localization to the Golgi apparatus, whereas during M phase, WDR62 was found at the spindle poles. The subcellular localization resembled that of CEP170 (613023). The findings suggested a major centrosomal role for WDR62. </p><p>In cellular studies, Bhat et al. (2011) found that WDR62 localized to centrosomes throughout mitotic progression. No staining was observed at the midbody during cytokinesis. During interphase, WDR62 localized to nucleoli. The findings indicated that WDR62 is a centrosomal as well as a nuclear protein and that localization is dependent both on the cell phase and on the cell type. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bilguvar et al. (2010) identified 2 missense, 2 nonsense, and 2 frameshift mutations (613583.0001-613583.0005) in the WDR62 gene in 10 patients with microcephaly-2 with cortical malformations (MCPH2; 604317). All patients were from consanguineous Turkish families and manifested with microcephaly, moderate to severe mental retardation, and cortical malformation including pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly, and in 1 instance, cerebellar hypoplasia. </p><p>In affected members of 2 consanguineous Pakistani families with primary microcephaly showing linkage to chromosome 19q13 (MCPH2) (Roberts et al., 1999), Nicholas et al. (2010) identified 2 different homozygous mutations in the WDR62 gene (613583.0006 and 613583.0007, respectively). In 5 additional consanguineous families of Pakistani, Arab, and Caucasian ancestry with primary microcephaly, they identified 4 different homozygous WDR62 mutations (see, e.g., 613583.0008-613583.0009, 613583.0011). Overall, the findings indicated that WDR62 is a key protein in enabling spindle poles to position the cytokinetic furrow and prolong neural precursor generation, a process that is uniquely vital to the proper growth of the human cerebral cortex. </p><p>Yu et al. (2010) identified 6 different homozygous mutations in the WDR62 gene (see, e.g., 613583.0009-613583.0011) in affected members of 6 consanguineous families with microcephaly-2 with cortical malformations, including polymicrogyria, schizencephaly, and subcortical heterotopia. </p><p>Bhat et al. (2011) identified 2 different homozygous truncating WDR62 mutations in 2 unrelated consanguineous Indian families with MCPH2 with cortical malformations, bringing the total number of pathogenic mutations in the gene to 17. Six of the 17 mutations are missense, and mutations occur throughout the gene sequence. Bhat et al. (2011) emphasized the wide phenotypic spectrum of cortical malformations in mutation carriers. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sgourdou et al. (2017) found that mice homozygous for a C-terminal truncating mutation in Wdr62 were viable but infertile. Compared with wildtype mice, mutant mice had smaller body size at early postnatal stages, but not in adulthood. Mutant mouse brain was smaller than normal from birth onward, likely due to reduced brain cell number. Cortical radial thickness was reduced in mutant mouse brain, and neocortical cytoarchitecture was disrupted, with dense and compact upper cortical layers, especially at rostral levels. Examination of microcephaly in mutant mice revealed that Wdr62 was required for proliferation of late-born cortical progenitors and differentially impacted self-renewal and differentiation of early versus late neocortical progenitors. Mutant mice exhibited asymmetric centrosome inheritance in neocortex, leading to abnormal migration and differentiation of mutant neurons inheriting the new mother centriole. Loss of Wdr62 in neural progenitors affected differentiation of a subset of cortical neurons. Wdr62 disruption was associated with defects in spindle pole localization of Wdr62 and abnormalities in mitotic cell cycle progression in neocortical progenitors from mutant mice and in primary fibroblasts from humans with autosomal recessive primary microcephaly and a similar C-terminal truncating mutation in WDR62. Database analysis and other investigation showed that wildtype WDR62, but not mutant WDR62, interacted with the core chromosome passenger complex (CPC) enzyme AURKB (604970). </p><p>Zhou et al. (2018) found that Wdr62 -/- mice were born at a normal mendelian ratio without developmental defects. However, Wdr62 -/- mice were completely infertile with reduced ovary and testis size and absent ovarian follicles in females. Immunofluorescence and real-time PCR analyses showed a defect in meiotic initiation in Wdr62 -/- female germ cells, causing them to remain in an undifferentiated state and undergo apoptosis. Expression of meiotic genes was dramatically reduced in germ cells from Wdr62 -/- female mice. Further analysis showed that Wdr62 was required for retinoic acid-induced meiotic gene expression by activating Jnk1 (MAPK8; 601158) signaling, and Jnk1 overexpression partially rescued defective germ cell development in Wdr62 -/- female mice. </p><p>Shohayeb et al. (2020) generated knockin mice homozygous for a val66-to-met (V66M) or arg439-to-his (R439H) mutation in Wdr62, corresponding to the human V65M (613583.0011) and R438H mutations (613583.0006) associated with microcephaly, as well as mice homozygous for a Wdr62 null allele (Wdr62-null mice). Expression of Wdr62 was maintained in R439H mice at both transcript and protein levels, was reduced only at the protein level in V66M mice, and was substantially reduced at both transcript and protein levels in Wdr62-null mice. Postnatal mice homozygous for R439H were rarely seen due to embryonic lethality during late gestation or lethality at birth, whereas mice homozygous for V66M or Wdr62 deletion were born at only marginally lower than expected mendelian ratios. However, each Wdr62 mutation resulted in gross morphologic defects consistent with ciliopathies (dwarfism, anophthalmia, and microcephaly). The Wdr62 mutations triggered premature differentiation and loss of self-renewed radial glia in mutant mice, as they perturbed division orientation of apical progenitors and increased cell cycle exit. Wdr62 played a conserved role in cilia regulation in developing cortex, and Wdr62 mutations caused axonemal and basal body defects, thereby disrupting normal cilia regulation in developing cortex. Wdr62 localized to the basal body of ciliated wildtype mouse embryonic fibroblasts (MEFs). Wdr62 mutants also localized to the basal body, but they lost their ability to interact with Cpap (CENPJ; 609279) and failed to recruit Cpap to centrosomes, leading to deficient recruitment of Ift88 (600595), a protein required for cilia formation, to basal bodies and ciliary axonemes. This loss of function in Wdr62 mutant mice caused premature differentiation of radial glia and cilia defects that contributed to development of microcephaly. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>13 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR62, 4-BP DEL, TGCC
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<br />
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SNP: rs397704721,
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ClinVar: RCV000000057
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In 2 sibs with autosomal recessive microcephaly-2 and cortical malformations (MCPH2; 604317) and in an affected child from another family, all from consanguineous Turkish unions, Bilguvar et al. (2010) identified homozygosity for a 4-basepair deletion (TGCC) in exon 31 of the WDR62 gene. This deletion occurred at codon 1402 and resulted in a frameshift and premature termination (Val1402GlyfsTer12). The mutation was heterozygous in all parents. It was not observed in 1,290 Turkish control chromosomes. The index patient was a 4-year, 6-month-old female who initially presented at 4 months of age with small head size. At 2 years, 3 months she showed micrognathia and a bulbous nose, and suffered from severe mental retardation. She had had no seizures. MRI showed diffuse cortical thickening and pachygyria. The patient from the second family was a 2-year, 4 month-old male. He had microcephaly and developmental delay but no seizures. Coronal images of this patient showed findings of microlissencephaly including prominent microcephaly, bilateral Sylvian clefts, hypoplastic corpus callosum, and thickened cortex. The kinship coefficients between affected individuals from both families were consistent with fourth-degree relatedness. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR62, GLU526LYS
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<br />
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SNP: rs147875659,
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gnomAD: rs147875659,
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ClinVar: RCV000000058, RCV000489330, RCV001174806, RCV002512586
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 15-year, 5-month old female with microcephaly-2 and cortical malformations (MCPH2; 604317), the child of consanguineous Turkish parents, Bilguvar et al. (2010) identified homozygosity for a G-to-A substitution in exon 12 of the WDR62 gene, resulting in a glutamic acid-to-lysine substitution at codon 526 (E526K). The glutamic acid at codon 526 was invariant in all species examined from human to zebrafish and lamprey. This mutation was found in heterozygosity in 3 apparently unrelated neurologically normal Turkish individuals, giving an allele frequency of 0.2%. The patient presented to medical attention at age 3.5 years with poor verbal skills. She had microcephaly, severe mental retardation, prognathism, dysconjugate gaze, and dysarthria, and was able to ambulate independently. Although abnormal electroencephalograms were noted, the patient never suffered an overt seizure. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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WDR62, TRP224SER
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<br />
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SNP: rs267607176,
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ClinVar: RCV000000059
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 sibs and their cousin with microcephaly-2 and cortical malformations (MCPH2; 604317), Bilguvar et al. (2010) identified homozygosity for a missense mutation in the WDR62 gene, a G-to-C transversion in exon 6 that converted tryptophan to serine at codon 224 (W224S). All parents were heterozygous for the mutation, which was not identified in 1,290 Turkish and 1,500 Caucasian control chromosomes. Tryptophan-224 was invariant in all species examined from human to zebrafish and lamprey. The proband was a 6-year, 5-month-old boy who presented at 2 years of age with hyperactivity, seizures, and inability to sleep. He experienced 4 to 8 seizures per day and had microcephaly, micrognathia, and severe mental retardation, and could ambulate only with assistance. The sibs were cousins of the proband. One was an 8-year, 7-month-old female who presented at age 3 with seizures. She was microcephalic, hyperactive, and had dysconjugate gaze. She was able to walk independently and had no obvious dysmorphic features but had moderate mental retardation. Her brother was 12 years, 11 months old. He had seizures, self-mutilating behavior, and severe mental retardation, but could ambulate independently. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>.0004 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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|
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WDR62, GLN470TER
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<br />
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|
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SNP: rs267607177,
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ClinVar: RCV000000060
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</span>
|
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</div>
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<div>
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|
<span class="mim-text-font">
|
|
<p>In a 14-year, 6-month-old male with microcephaly-2 and cortical malformations (MCPH2; 604317), the product of a consanguineous Turkish union, Bilguvar et al. (2010) identified homozygosity for a C-to-T transition in exon 11 of the WDR62 gene, resulting in a glutamine-to-termination substitution at codon 470 (Q470X). This mutation was not identified in 1,290 Turkish and 1,500 Caucasian control chromosomes. The patient was severely mentally retarded but had never had seizures. He had required surgery for hernia repair and cryptorchidism. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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WDR62, 17-BP DEL
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<br />
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SNP: rs397704725,
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ClinVar: RCV000000061
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 10-year, 10-month-old female with microcephaly-2 and cortical malformations (MCPH2; 604317), the product of a consanguineous Turkish union, Bilguvar et al. (2010) identified homozygosity for a 17-bp deletion in exon 30 of the WDR62 gene, leading to a frameshift at codon 1280 and premature termination following a novel peptide of 20 amino acids (Gly1280AlafsTer21). The patient presented to medical attention at 3 months of age with failure to thrive and small head size. On neurologic examination she was noted to have good head control. She recognized her mother and had a social smile. This mutation was not identified in 1,290 Turkish and 1,500 Caucasian control chromosomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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WDR62, ARG438HIS
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<br />
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SNP: rs387907082,
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|
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ClinVar: RCV000024029, RCV001384574
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|
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</span>
|
|
</div>
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Pakistani family with primary microcephaly-2 (MCPH2; 604317), originally reported by Roberts et al. (1999), Nicholas et al. (2010) identified a homozygous 1313G-A transition in exon 10 of the WDR62 gene, resulting in an arg438-to-his (R438H) substitution at a highly conserved residue. In vitro functional expression assays showed that the mutant protein did not localize correctly to the spindle poles during mitosis. The mutation was not found in 298 Pakistani control chromosomes. Brain scan from 1 patient showed a simplified gyral pattern. </p>
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0007 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR62, 1-BP DUP, 4241T
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<br />
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SNP: rs587776899,
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ClinVar: RCV000024030
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected members of a consanguineous Pakistani family with primary microcephaly-2 (MCPH2; 604317), originally reported by Roberts et al. (1999), Nicholas et al. (2010) identified a homozygous 1-bp duplication (4241dupT) in exon 31 of the WDR62 gene, resulting in a frameshift and premature termination. The mutation was predicted to result in a stable transcript with C-terminal deletion of 109 amino acids in a region that contains neither predicted protein domains nor posttranslational modification sites. The mutation was not found in 298 Pakistani control chromosomes. In vitro functional expression assays showed that the mutant protein did not localize correctly to the spindle poles during mitosis. Brain scans of patients were not available. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0008 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR62, ASP511ASN
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<br />
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SNP: rs387907083,
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gnomAD: rs387907083,
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ClinVar: RCV000024031, RCV001250231, RCV003332085
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected individuals from 2 unrelated Pakistani families with primary microcephaly-2 (MCPH2; 604317), Nicholas et al. (2010) identified a homozygous 1531G-A transition in exon 11 of the WDR62 gene, resulting in an asp511-to-asn (D511N) substitution at a highly conserved residue. The mutation was found in 1 of 284 Pakistani control chromosomes. Brain scans of the affected individuals were not available. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0009 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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WDR62, 1-BP INS, 3936C
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<br />
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SNP: rs587776900,
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ClinVar: RCV000024032, RCV003236770
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Turkish boy, born of consanguineous parents, with microcephaly-2 with cortical malformations (MCPH2; 604317), Yu et al. (2010) identified a homozygous 1-bp insertion (3936insC) in exon 30 of the WDR62 gene, resulting in a frameshift and premature termination. The mutation was not identified in 508 control individuals. The boy had severely delayed psychomotor development, and brain MRI showed polymicrogyria, simplified gyral pattern, volume loss, and a corpus callosum with incomplete genu and small splenium. A second pregnancy was terminated after the ultrasound showed microcephaly and abnormal gyral pattern in the fetus. </p><p>In a Caucasian girl, born of consanguineous parents, with microcephaly, thickened cerebral cortex, and severe developmental delay, Nicholas et al. (2010) identified homozygosity for the 3936insC mutation, which they termed 3936dupC. The mutation was not identified in 396 Caucasian control chromosomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0010 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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WDR62, 1-BP DEL, 363T
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<br />
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SNP: rs587776901,
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gnomAD: rs587776901,
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ClinVar: RCV000024033
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 affected Mexican sibs, born of consanguineous parents, with microcephaly-2 with cortical malformations (MCPH2; 604317), Yu et al. (2010) identified a homozygous 1-bp deletion (363delT) in exon 4 of the WDR62 gene, resulting in a frameshift and premature termination. The mutation was not identified in 508 control individuals. There was some phenotypic variability: 2 sibs had small heads with a simplified gyral pattern on brain MRI, 1 of whom had also had generalized tonic-clonic seizures and severe psychomotor retardation. The third sib did not have seizures but had more severe microcephaly (-5.4 SD), normal early psychomotor development with later delay, and more complex MRI changes, including a simplified gyral pattern, thin corpus callosum, and subcortical band heterotopia. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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WDR62, VAL65MET
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<br />
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SNP: rs387907084,
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ClinVar: RCV000024034
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 affected Saudi Arabian sibs, born of consanguineous parents, with microcephaly-2 with cortical malformations (MCPH2; 604317), Yu et al. (2010) identified homozygosity for a 193G-A transition in exon 2 of the WDR62 gene, resulting in a val65-to-met (V65M) substitution at a highly conserved residue. The mutation was not identified in 508 control individuals. Two sibs were more severely affected, with severe microcephaly (-9.2 to -9.8 SD), profound psychomotor delay with spastic quadriparesis, and polymicrogyria and open lip schizencephaly on brain MRI. The third patient had microcephaly (-5.3 SD), developmental delay, and simplified gyral pattern on brain MRI. All had relative preservation of the cerebellum and brainstem. </p><p>In 3 Arab sibs, born of consanguineous parents, with MCPH2, Nicholas et al. (2010) identified homozygosity for the V65M mutation. The mutation was not identified in 184 Arab control chromosomes. Brain scans of these patients were not available. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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WDR62, 1-BP DEL, 2083A
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<br />
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SNP: rs863223322,
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|
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ClinVar: RCV000024035, RCV001582498
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 brothers with primary microcephaly-2 with polymicrogyria (MCPH2; 604317), who were born of unrelated parents of northern European descent, Murdock et al. (2011) identified compound heterozygosity for 2 truncating mutations in the WDR62 gene: a 1-bp deletion (2083delA) in exon 17 and a 2-bp deletion (2472_2473delAG; 613583.0013) in exon 23. Both mutations were predicted to cause nonsense-mediated mRNA decay and loss of function. Each unaffected parent was heterozygous for 1 of the mutations. The mutations were identified by exome sequencing. The phenotype of the sibs varied. The first sib, whose pregnancy was complicated by gestational diabetes, had a more severe phenotype, with extensive bilateral polymicrogyria, abnormal corpus callosum, global developmental delay, intractable seizures, and spastic quadriparesis. The second sib had extensive polymicrogyria and gray matter heterotopia, but did not have seizures; he had age-appropriate cognition and only mild unilateral hemiparesis. Both patients had head circumferences less than the fifth percentile. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH CORTICAL MALFORMATIONS</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
WDR62, 2-BP DEL, 2472AG
|
|
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<br />
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|
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SNP: rs764201220,
|
|
|
|
|
|
gnomAD: rs764201220,
|
|
|
|
|
|
ClinVar: RCV000024036, RCV003229803
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 2-bp deletion in the WDR62 gene (2472_2473delAG) that was found in compound heterozygous state in 2 brothers with primary microcephaly-2 with polymicrogyria (MCPH2; 604317) by Murdock et al. (2011), see 613583.0012. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Bhat, V., Girimaji, S., Mohan, G., Arvinda, H., Singhmar, P., Duvvari, M., Kumar, A.
|
|
<strong>Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.</strong>
|
|
Clin. Genet. 80: 532-540, 2011.
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|
[PubMed: 21496009]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01686.x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Bilguvar, K., Ozturk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatli, B., Yalnizoglu, D., Tuysuz, B., Caglayan, A. O., Gokben, S., Kaymakcalan, H., Barak, T., and 21 others.
|
|
<strong>Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.</strong>
|
|
Nature 467: 207-210, 2010.
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[PubMed: 20729831]
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[Full Text: https://doi.org/10.1038/nature09327]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Murdock, D. R., Clark, G. D., Bainbridge, M. N., Newsham, I., Wu, Y.-Q., Muzny, D. M., Cheung, S. W., Gibbs, R. A., Ramocki, M. B.
|
|
<strong>Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.</strong>
|
|
Am. J. Med. Genet. 155A: 2071-2077, 2011.
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[PubMed: 21834044]
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[Full Text: https://doi.org/10.1002/ajmg.a.34165]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Nicholas, A. K., Khurshid, M., Desir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloes, A., Passemard, S., Misson, J.-P., Lindsay, S., Gergely, F., Dobyns, W. B., Roberts, E., Abramowicz, M., Woods, C. G.
|
|
<strong>WDR62 is associated with the spindle pole and is mutated in human microcephaly.</strong>
|
|
Nature Genet. 42: 1010-1014, 2010.
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|
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|
|
[PubMed: 20890279]
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[Full Text: https://doi.org/10.1038/ng.682]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Roberts, E., Jackson, A. P., Carradice, A. C., Deeble, V. J., Mannan, J., Rashid, Y., Jafri, H., McHale, D. P., Markham, A. F., Lench, N. J., Woods, C. G.
|
|
<strong>The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.</strong>
|
|
Europ. J. Hum. Genet. 7: 815-820, 1999.
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[PubMed: 10573015]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200385]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Sgourdou, P., Mishra-Gorur, K., Saotome, I., Henagariu, O., Tuysuz, B., Campos, C., Ishigame, K., Giannikou, K., Quon, J. L., Sestan, N., Caglayan, A. O., Gunel, M., Louvi, A.
|
|
<strong>Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.</strong>
|
|
Sci. Rep. 7: 43708, 2017. Note: Electronic Article.
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[PubMed: 28272472]
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[Full Text: https://doi.org/10.1038/srep43708]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Shohayeb, B., Ho, U., Yeap, Y. Y., Parton, R. G., Millard, S. S., Xu, Z., Piper, M., Ng, D. C. H.
|
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<strong>The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development.</strong>
|
|
Hum. Molec. Genet. 29: 248-263, 2020.
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[PubMed: 31816041]
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[Full Text: https://doi.org/10.1093/hmg/ddz281]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores-Sarnat, L., Sergi, C. M., Topcu, M., McDonald, M. T., Barry, B. J., Felie, J. M., Sunu, C., Dobyns, W. B., Folkerth, R. D., Barkovich, A. J., Walsh, C. A.
|
|
<strong>Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.</strong>
|
|
Nature Genet. 42: 1015-1020, 2010.
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|
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|
|
[PubMed: 20890278]
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[Full Text: https://doi.org/10.1038/ng.683]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhou, Y., Qin, Y., Qin, Y., Xu, B., Guo, T., Ke, H., Chen, M., Zhang, L., Han, F., Li, Y., Chen, M., Behrens, A., Wang, Y., Xu, Z., Chen, Z.-J., Gao, F.
|
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<strong>Wdr62 is involved in female meiotic initiation via activating JNK signaling and associated POI in humans.</strong>
|
|
PLoS Genet. 14: e1007463, 2018. Note: Electronic Article. Erratum: PLoS Genet. 15: e1008504, 2019.
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[PubMed: 30102701]
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[Full Text: https://doi.org/10.1371/journal.pgen.1007463]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 02/02/2022<br>Bao Lige - updated : 03/05/2019<br>Cassandra L. Kniffin - updated : 9/6/2011<br>Cassandra L. Kniffin - updated : 5/12/2011
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 10/7/2010
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 02/02/2022<br>mgross : 09/21/2020<br>mgross : 09/21/2020<br>carol : 03/18/2020<br>carol : 03/18/2019<br>mgross : 03/05/2019<br>mgross : 03/05/2019<br>carol : 09/15/2015<br>mcolton : 8/17/2015<br>carol : 2/13/2015<br>carol : 8/30/2013<br>alopez : 11/2/2011<br>alopez : 10/4/2011<br>carol : 9/7/2011<br>ckniffin : 9/6/2011<br>carol : 7/6/2011<br>wwang : 6/8/2011<br>ckniffin : 6/7/2011<br>ckniffin : 6/7/2011<br>wwang : 6/7/2011<br>ckniffin : 5/12/2011<br>alopez : 10/7/2010
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